Overview
Medich giant platelet syndrome is an extremely rare inherited blood disorder that affects the platelets, which are the tiny blood cells that help your body form clots to stop bleeding. In this condition, the platelets are abnormally large (giant platelets) and may not work properly. People with this syndrome typically experience a tendency to bleed or bruise more easily than normal. The condition falls under the broader category of inherited giant platelet disorders, which are a group of conditions where platelets are larger than usual and often reduced in number (thrombocytopenia). Symptoms can vary but generally include easy bruising, prolonged bleeding after cuts or dental procedures, nosebleeds, and in some cases heavier menstrual periods in women. The severity of bleeding symptoms can range from mild to moderate. Because this is such a rare condition, the medical literature on it is very limited, and much of what is known comes from a small number of reported families. Treatment is mainly supportive and focused on managing bleeding symptoms. There is no cure for Medich giant platelet syndrome. Patients may need platelet transfusions during surgery or after significant injuries. Avoiding medications that interfere with platelet function, such as aspirin and other nonsteroidal anti-inflammatory drugs (NSAIDs), is generally recommended. Regular follow-up with a hematologist is important to monitor platelet counts and manage any bleeding episodes.
Also known as:
Key symptoms:
Easy bruisingProlonged bleeding after cuts or injuriesNosebleedsHeavy menstrual periodsBleeding after dental proceduresLow platelet countAbnormally large platelets on blood smearProlonged bleeding after surgeryGum bleedingSmall red or purple spots on the skin (petechiae)
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Medich giant platelet syndrome.
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Specialists
View all specialists →No specialists are currently listed for Medich giant platelet syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Medich giant platelet syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.How severe is my (or my child's) platelet disorder, and what platelet count levels should I watch for?,What medications and over-the-counter drugs should I avoid?,What should I do if bleeding doesn't stop after an injury?,Are there any activities or sports that should be avoided?,Should other family members be tested for this condition?,What precautions should be taken before surgery or dental procedures?,Is genetic testing available to identify the specific cause in our family?
Common questions about Medich giant platelet syndrome
What is Medich giant platelet syndrome?
Medich giant platelet syndrome is an extremely rare inherited blood disorder that affects the platelets, which are the tiny blood cells that help your body form clots to stop bleeding. In this condition, the platelets are abnormally large (giant platelets) and may not work properly. People with this syndrome typically experience a tendency to bleed or bruise more easily than normal. The condition falls under the broader category of inherited giant platelet disorders, which are a group of conditions where platelets are larger than usual and often reduced in number (thrombocytopenia). Symptoms
How is Medich giant platelet syndrome inherited?
Medich giant platelet syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.